MCID: LNG015
MIFTS: 27

Lingual-Facial-Buccal Dyskinesia

Categories: Neuronal diseases

Aliases & Classifications for Lingual-Facial-Buccal Dyskinesia

MalaCards integrated aliases for Lingual-Facial-Buccal Dyskinesia:

Name: Lingual-Facial-Buccal Dyskinesia 12 15 73
Oro-Facial Dyskinesia 12
Orofacial Dyskinesia 29

Classifications:



External Ids:

Disease Ontology 12 DOID:9854
ICD10 33 G24.4
ICD9CM 35 333.82
MeSH 44 D009069
UMLS 73 C0152115

Summaries for Lingual-Facial-Buccal Dyskinesia

MalaCards based summary : Lingual-Facial-Buccal Dyskinesia, also known as oro-facial dyskinesia, is related to tardive dyskinesia and dyskinesia, limb and orofacial, infantile-onset, and has symptoms including spasmodic torticollis An important gene associated with Lingual-Facial-Buccal Dyskinesia is VPS13A (Vacuolar Protein Sorting 13 Homolog A), and among its related pathways/superpathways are Peptide ligand-binding receptors and Amphetamine addiction. Related phenotypes are behavior/neurological and nervous system

Related Diseases for Lingual-Facial-Buccal Dyskinesia

Diseases related to Lingual-Facial-Buccal Dyskinesia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 tardive dyskinesia 11.5
2 dyskinesia, limb and orofacial, infantile-onset 11.3
3 spinocerebellar ataxia 27 11.0
4 myopathy with extrapyramidal signs 11.0
5 choreatic disease 10.2 KEL VPS13A
6 choreoacanthocytosis 10.2 KEL VPS13A
7 schizophrenia 9.8
8 personality disorder 9.6 DRD3 HTR2C
9 disease of mental health 9.6 DRD3 HTR2C
10 mood disorder 9.5 DRD3 HTR2C
11 psychotic disorder 9.4 DRD3 HTR2C
12 obsessive-compulsive disorder 9.3 DRD3 HTR2C
13 migraine with or without aura 1 9.1 DRD3 HTR2C

Graphical network of the top 20 diseases related to Lingual-Facial-Buccal Dyskinesia:



Diseases related to Lingual-Facial-Buccal Dyskinesia

Symptoms & Phenotypes for Lingual-Facial-Buccal Dyskinesia

UMLS symptoms related to Lingual-Facial-Buccal Dyskinesia:


spasmodic torticollis

MGI Mouse Phenotypes related to Lingual-Facial-Buccal Dyskinesia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 VPS13A DRD3 GRIN3A GRIN3B HTR2C KEL
2 nervous system MP:0003631 9.1 VPS13A DRD3 GRIN3A HTR2C KEL SLC20A2

Drugs & Therapeutics for Lingual-Facial-Buccal Dyskinesia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders Recruiting NCT02252380 Not Applicable
2 Effect of tDCS on Cognition, Symptoms in Chronic Schizophrenia Patients With Tardive Dyskinesia Recruiting NCT03497013 Not Applicable

Search NIH Clinical Center for Lingual-Facial-Buccal Dyskinesia

Genetic Tests for Lingual-Facial-Buccal Dyskinesia

Genetic tests related to Lingual-Facial-Buccal Dyskinesia:

# Genetic test Affiliating Genes
1 Orofacial Dyskinesia 29

Anatomical Context for Lingual-Facial-Buccal Dyskinesia

Publications for Lingual-Facial-Buccal Dyskinesia

Articles related to Lingual-Facial-Buccal Dyskinesia:

# Title Authors Year
1
Observations on the effect of levodopa on tardive lingual-facial-buccal dyskinesia. ( 5112211 )
1971

Variations for Lingual-Facial-Buccal Dyskinesia

Expression for Lingual-Facial-Buccal Dyskinesia

Search GEO for disease gene expression data for Lingual-Facial-Buccal Dyskinesia.

Pathways for Lingual-Facial-Buccal Dyskinesia

GO Terms for Lingual-Facial-Buccal Dyskinesia

Cellular components related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.43 DRD3 GRIN3A GRIN3B HTR2C KEL SLC20A2
2 NMDA selective glutamate receptor complex GO:0017146 8.62 GRIN3A GRIN3B

Biological processes related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.63 GRIN3A GRIN3B SLC20A2
2 calcium ion transmembrane transport GO:0070588 9.43 GRIN3A GRIN3B
3 response to ethanol GO:0045471 9.4 DRD3 GRIN3A
4 excitatory postsynaptic potential GO:0060079 9.37 GRIN3A GRIN3B
5 social behavior GO:0035176 9.32 DRD3 VPS13A
6 ionotropic glutamate receptor signaling pathway GO:0035235 9.26 GRIN3A GRIN3B
7 prepulse inhibition GO:0060134 9.16 DRD3 GRIN3A
8 cellular calcium ion homeostasis GO:0006874 9.13 DRD3 HTR2C KEL
9 locomotory behavior GO:0007626 8.8 DRD3 HTR2C VPS13A

Molecular functions related to Lingual-Facial-Buccal Dyskinesia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.37 GRIN3A GRIN3B
2 drug binding GO:0008144 9.32 DRD3 HTR2C
3 neurotransmitter receptor activity GO:0030594 9.26 GRIN3B HTR2C
4 ionotropic glutamate receptor activity GO:0004970 9.16 GRIN3A GRIN3B
5 extracellularly glutamate-gated ion channel activity GO:0005234 8.96 GRIN3A GRIN3B
6 glycine binding GO:0016594 8.62 GRIN3A GRIN3B

Sources for Lingual-Facial-Buccal Dyskinesia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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